Publication:

A novel genetic variant in loss of heterozygosity

An interesting case of loss of heterozygosity (LOH) and BOH with a history of second degree consanguineous marriage with manifestation of congenital fetal malformation in all her previous pregnancies. A case of missed clinical diagnosis and poor correlation of available clues and data due to lack of awareness, poor history taking and repeated irrelevant investigations, relying mostly on sonography and adhocism. This case is being reported as consanguinity is extremely widespread in the subcontinent and patients seldom get answers to recurrent miscarriages and fetal loss. On evaluation, the affected fetus had novel – likely pathogenic genetic variant not yet classified.